Cyclic Neutropenia

• Autosomal dominant in 25% of patients
• Occurs in infancy
• Defect: presumed to be a regulatory defect involving early hematopoietic precursor cells esp neutrophils
• Classic presentation: alternating periods of wellness
• 21-day cyclical oscillations; sx last 3 -7 days (ANC < 200)
• During neutropenic stage:
  • get malaise, fever, gingivitis, oral ulcers, pharyngitis, LAD, perinealabscesses
  • Can also get more serious complications such as pneumonia and mastoiditis
• Fever with aphthous stomatitis, pharyngitis, and cervical lymphadenopathy
• Symptoms improve with age but hematopoetic findings persist
• Recurrent infections with ANC <200 but serious bacterial infections are uncommon
• Dx: Check ANC 2-3x/wk for 6-8 weeks to establish whether a 21 day cycle can be identified
• Treat with GCSF, dental care, abx prn.

CHLA Board Review 2005